MCID: GLS018
MIFTS: 38

Glass Syndrome

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Glass Syndrome

MalaCards integrated aliases for Glass Syndrome:

Name: Glass Syndrome 53 12
Chromosome 2q32-Q33 Deletion Syndrome 53 12 28 13 14 69
2q32-Q33 Microdeletion Syndrome 12 55
2q32q33 Microdeletion Syndrome 12 55
Monosomy 2q32-Q33 12 55
Monosomy 2q32q33 12 55
Monosomy 2q32 12 55
Del(2)(q32q33) 55
Del(2)(q32) 55
Glass 53

Characteristics:

Orphanet epidemiological data:

55
2q32q33 microdeletion syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
variable manifestations


HPO:

31
glass syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Glass Syndrome

OMIM : 53 Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014). (612313)

MalaCards based summary : Glass Syndrome, also known as chromosome 2q32-q33 deletion syndrome, is related to glass-chapman-hockley syndrome and uncombable hair syndrome 1, and has symptoms including low-set ears, high palate and muscular hypotonia. An important gene associated with Glass Syndrome is SATB2 (SATB Homeobox 2). Affiliated tissues include skin.

Related Diseases for Glass Syndrome

Diseases related to Glass Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 glass-chapman-hockley syndrome 12.1
2 uncombable hair syndrome 1 11.6
3 pulmonary venoocclusive disease 1, autosomal dominant 11.2
4 satb2-associated syndrome 11.1
5 cavernous sinus thrombosis 9.7 SATB2 SERPINC1
6 cleft palate, isolated 9.7 HMOX2 SATB2

Graphical network of the top 20 diseases related to Glass Syndrome:



Diseases related to Glass Syndrome

Symptoms & Phenotypes for Glass Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skin Nails Hair Hair:
thin, sparse hair

Head And Neck Face:
frontal bossing
smooth philtrum
micrognathia
long face
high forehead
more
Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
high-arched palate
small mouth

Head And Neck Nose:
prominent nasal bridge
long nose
bulbous nasal tip
thin nose

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
happy demeanor
aggression

Neurologic Central Nervous System:
broad-based gait
mental retardation
delayed psychomotor development
seizures (in some patients)
poor speech development

Skin Nails Hair Nails:
dysplastic nails

Growth Other:
growth retardation, pre- and postnatal

Head And Neck Ears:
low-set ears

Abdomen External Features:
inguinal hernia

Growth Height:
short stature

Skin Nails Hair Skin:
thin skin

Skeletal Hands:
arachnodactyly
camptodactyly

Head And Neck Teeth:
oligodontia
crowded teeth
delayed primary dentition
peg-shaped teeth

Head And Neck Eyes:
downslanting palpebral fissures

Skeletal Feet:
pes equinovarus

Laboratory Abnormalities:
some patients carry a deletion of minimum of 8.1 mb on 2q32-q33


Clinical features from OMIM:

612313

Human phenotypes related to Glass Syndrome:

55 31 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 55 31 frequent (33%) Frequent (79-30%) HP:0000369
2 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
3 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
4 sleep disturbance 55 31 occasional (7.5%) Occasional (29-5%) HP:0002360
5 global developmental delay 55 31 hallmark (90%) Very frequent (99-80%) HP:0001263
6 delayed speech and language development 55 31 hallmark (90%) Very frequent (99-80%) HP:0000750
7 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
8 anteverted nares 55 31 occasional (7.5%) Occasional (29-5%) HP:0000463
9 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
10 broad hallux phalanx 55 31 occasional (7.5%) Occasional (29-5%) HP:0010059
11 broad thumb 55 31 occasional (7.5%) Occasional (29-5%) HP:0011304
12 brachycephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000248
13 intellectual disability, severe 55 31 hallmark (90%) Very frequent (99-80%) HP:0010864
14 cleft palate 55 31 frequent (33%) Frequent (79-30%) HP:0000175
15 long philtrum 55 31 occasional (7.5%) Occasional (29-5%) HP:0000343
16 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
17 feeding difficulties 55 31 frequent (33%) Frequent (79-30%) HP:0011968
18 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
19 joint hyperflexibility 55 31 occasional (7.5%) Occasional (29-5%) HP:0005692
20 toe clinodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001863
21 autism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000717
22 attention deficit hyperactivity disorder 55 31 occasional (7.5%) Occasional (29-5%) HP:0007018
23 anxiety 55 31 occasional (7.5%) Occasional (29-5%) HP:0000739
24 incomprehensible speech 55 31 occasional (7.5%) Occasional (29-5%) HP:0002546
25 prominent nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000426
26 clinodactyly of the 5th finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0004209
27 decreased testicular size 55 31 occasional (7.5%) Occasional (29-5%) HP:0008734
28 arachnodactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001166
29 dental crowding 55 31 frequent (33%) Frequent (79-30%) HP:0000678
30 downslanted palpebral fissures 55 31 occasional (7.5%) Occasional (29-5%) HP:0000494
31 narrow mouth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000160
32 long face 55 31 occasional (7.5%) Occasional (29-5%) HP:0000276
33 talipes equinovarus 55 31 occasional (7.5%) Occasional (29-5%) HP:0001762
34 fine hair 55 31 frequent (33%) Frequent (79-30%) HP:0002213
35 aggressive behavior 55 31 occasional (7.5%) Occasional (29-5%) HP:0000718
36 high forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000348
37 convex nasal ridge 55 31 occasional (7.5%) Occasional (29-5%) HP:0000444
38 thin vermilion border 55 31 frequent (33%) Frequent (79-30%) HP:0000233
39 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
40 sparse hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0008070
41 conspicuously happy disposition 55 31 occasional (7.5%) Occasional (29-5%) HP:0100024
42 oligodontia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000677
43 seizures 31 HP:0001250
44 malar flattening 31 HP:0000272
45 frontal bossing 31 HP:0002007
46 intellectual disability 31 HP:0001249
47 inguinal hernia 31 HP:0000023
48 smooth philtrum 31 HP:0000319
49 thin skin 31 HP:0000963
50 growth delay 55 Frequent (79-30%)

UMLS symptoms related to Glass Syndrome:


thin, sparse hair

Drugs & Therapeutics for Glass Syndrome

Search Clinical Trials , NIH Clinical Center for Glass Syndrome

Genetic Tests for Glass Syndrome

Genetic tests related to Glass Syndrome:

# Genetic test Affiliating Genes
1 Chromosome 2q32-Q33 Deletion Syndrome 28 SATB2

Anatomical Context for Glass Syndrome

MalaCards organs/tissues related to Glass Syndrome:

38
Skin

Publications for Glass Syndrome

Articles related to Glass Syndrome:

(show top 50) (show all 351)
# Title Authors Year
1
HRCT texture analysis for pure or part-solid ground-glass nodules: distinguishability of adenocarcinoma in situ or minimally invasive adenocarcinoma from invasive adenocarcinoma. ( 29273964 )
2018
2
Ground-glass opacity heralding invasive lung adenocarcinoma with prodromal dermatomyositis: a case report. ( 29415746 )
2018
3
Neurological recovery after traumatic Cauda Equina syndrome due to glass fragments: An unusual case. ( 29350375 )
2018
4
Y90 radioembolization dosimetry using a simple semi-quantitative method in intrahepatic cholangiocarcinoma: Glass versus resin microspheres. ( 29448165 )
2018
5
Treatment of Aneurysmal Bone Cysts with Bioactive Glass in Children. ( 28950789 )
2017
6
Radiological images through an anaesthesiologists' looking glass: Airway management in cervical lipomatosis in an infant. ( 29242660 )
2017
7
In vitro stimulation of vascular endothelial growth factor by borate-based glass fibers under dynamic flow conditions. ( 28183631 )
2017
8
Lung lymphoma with ground glass opacity CT image. ( 28158804 )
2017
9
Solitary pulmonary capillary hemangioma presents as ground glass opacity on computed tomography indicating adenocarcinoma<i>in situ</i>/atypical adenomatous hyperplasia: A case report. ( 29188054 )
2017
10
Cytotoxic effect of ferrimagnetic glass-ceramic nanocomposites on bone osteosarcoma cells. ( 28152478 )
2017
11
Squamous cell carcinoma of the lung showing a ground glass nodule on high-resolution computed tomography associated with pneumoconiosis: a case report. ( 28963659 )
2017
12
Group 5 drugs for multidrug-resistant tuberculosis: is the glass half full or half empty? ( 28049180 )
2017
13
Combined Fractional Treatment of Acne Scars Involving Non-ablative 1,550-nm Erbium-glass Laser and Micro-needling Radiofrequency: A 16-week Prospective, Randomized Split-face Study. ( 28512669 )
2017
14
Management of Duane retraction syndrome with prismatic glasses. ( 28442887 )
2017
15
Resin versus Glass Microspheres for Yttrium-90 Transarterial Radioembolization: Comparing Survival in Unresectable Hepatocellular Carcinoma using Pretreatment Partition Model Dosimetry. ( 28082436 )
2017
16
A pilot randomized clinical trial of intermittent occlusion therapy liquid crystal glasses versus traditional patching for treatment of moderate unilateral amblyopia. ( 27418249 )
2016
17
Discrepancy of epidermal growth factor receptor mutation in lung adenocarcinoma presenting as multiple ground-glass opacities. ( 27032467 )
2016
18
Cleft Lip Repair: Through the Looking Glass. ( 28005748 )
2016
19
Should Glasses Be Prescribed for All Children with Moderate Hyperopia? ( 27012695 )
2016
20
Heart of glass anchors Rasip1 at endothelial cell-cell junctions to support vascular integrity. ( 26780829 )
2016
21
Ground-glass nodule in a patient with echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK)-positive lung cancer: a case report. ( 26964537 )
2016
22
Juvenile amyotrophic lateral sclerosis: Classical wine glass sign on magnetic resonance imaging. ( 27195035 )
2016
23
Successful treatment of areolar Fox-Fordyce disease with surgical excision and 1550-nm fractionated erbium glass laser. ( 27072751 )
2016
24
White Fibrous Papulosis of the Neck Treated With Fractionated 1550-nm Erbium Glass Laser: A Case Report. ( 28491262 )
2016
25
INVESTIGATING THE ADDITION OF COLLAGEN AND ITS INTEGRIN BINDING SEQUENCE (RGD) TO GLASS POLYALKENOATE; IN TERMS OF MATERIAL AND CELLULAR PROPERTIES TO EXPLORE A MORE BIOCOMPATIBLE METHOD OF ROOT CARIES RESTORATION. ( 27662793 )
2016
26
Thin-section computed tomography-histopathologic comparisons of pulmonary focal interstitial fibrosis, atypical adenomatous hyperplasia, adenocarcinoma in situ, and minimally invasive adenocarcinoma with pure ground-glass opacity. ( 27666606 )
2016
27
Wearing blue light-blocking glasses in the evening advances circadian rhythms in the patients with delayed sleep phase disorder: An open-label trial. ( 27322730 )
2016
28
Isolated Intravascular Large B-cell Lymphoma Presenting with Diffuse Ground Glass Pulmonary Infiltrates. ( 27408440 )
2016
29
Accommodative ET-High AC/A Ratio Esotropia: The Case for Glasses. ( 27799576 )
2016
30
A traumatic spinal perimedullary arteriovenous fistula induced by a cervical glass stab injury. ( 27647027 )
2016
31
Surgical outcome of foot drop caused by common peroneal nerve injuries; is the glass half full or half empty? ( 27106843 )
2016
32
Through the Looking Glass: Chronic Urticaria Treated with Anti-IgE Therapy. ( 27158551 )
2016
33
Management of localized advance loss of periodontal support associated Grade II furcation and intrabony defect in chronic periodontitis patient through amalgamation of platelet-rich fibrin and hydroxyapatite bioactive glass composite granules. ( 27630511 )
2016
34
Opera-Glass Hand in a Patient With Rheumatoid Arthritis. ( 27213848 )
2016
35
Ibrutinib in mantle cell lymphoma patients: glass half full? Evidence and opinion. ( 26425337 )
2015
36
Sealing Dentin Caries with Resin-Modified Glass Ionomer Decreases Lesion Progression and Bacterial Survival in an Experimental Model. ( 25893224 )
2015
37
Open-label prospective study of the safety and efficacy of glass-based yttrium 90 radioembolization for infiltrative hepatocellular carcinoma with portal vein thrombosis. ( 25847227 )
2015
38
EGFR L858R mutation is associated with lung adenocarcinoma patients with dominant ground-glass opacity. ( 25582278 )
2015
39
Circulating RNA: looking at the liver through a frosted glass. ( 26616145 )
2015
40
Ground-glass opacities and a solitary nodule on chest in intravascular large B-cell lymphoma. ( 26392859 )
2015
41
Through a glass darkly: facial wrinkles affect our processing of emotion in the elderly. ( 26483729 )
2015
42
Clinical Effect of Antioxidant Glasses Containing Extracts of Medicinal Plants in Patients with Dry Eye Disease: A Multi-Center, Prospective, Randomized, Double-Blind, Placebo-Controlled Trial. ( 26457673 )
2015
43
The Volume Ratio of Ground Glass Opacity in Early Lung CT Predicts Mortality in Acute Paraquat Poisoning. ( 25830638 )
2015
44
Is the glass half full or half empty? A qualitative exploration on treatment practices and perceived barriers to biomedical care for patients with nodding syndrome in post-conflict northern Uganda. ( 26318338 )
2015
45
Severity stages in essential tremor: a long-term retrospective study using the glass scale. ( 25793146 )
2015
46
Cerebral cavernous malformations arise independent of the heart of glass receptor. ( 24643410 )
2014
47
A case of autoimmune pulmonary alveolar proteinosis appearing as a localized ground-glass opacity. ( 25149419 )
2014
48
Through the looking glass: an exploratory study of the lived experiences and unmet needs of families affected by Von Hippel-Lindau disease. ( 24690678 )
2014
49
Epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements in lung cancer with nodular ground-glass opacity. ( 24885886 )
2014
50
"Glass fairies" and "bone children": Adolescents and young adults with anorexia nervosa show positive reactions towards extremely emaciated body pictures measured by the startle reflex paradigm. ( 24423135 )
2014

Variations for Glass Syndrome

ClinVar genetic disease variations for Glass Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SATB2 NM_015265.3(SATB2): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs137853127 GRCh37 Chromosome 2, 200213882: 200213882
2 SATB2 NM_015265.3(SATB2): c.1169C> T (p.Thr390Ile) single nucleotide variant Likely pathogenic rs863224917 GRCh37 Chromosome 2, 200213428: 200213428
3 SATB2 NG_016976.1: g.(77205_77207)_(112216_112218)dup duplication Pathogenic GRCh38 Chromosome 2, 199364049: 199399062
4 SATB2 NM_001172509.1(SATB2): c.170_346dup177 duplication Pathogenic GRCh38 Chromosome 2, 199391823: 199446462
5 SATB2 NM_015265.3(SATB2): c.1131_1132delGT (p.Ser378Profs) deletion Pathogenic rs875989830 GRCh37 Chromosome 2, 200213465: 200213466
6 SATB2 NM_015265.3(SATB2): c.1495A> T (p.Lys499Ter) single nucleotide variant Pathogenic rs878853163 GRCh37 Chromosome 2, 200188573: 200188573
7 SATB2 NM_015265.3(SATB2): c.1627delC (p.Arg543Alafs) deletion Pathogenic rs1135401803 GRCh37 Chromosome 2, 200173596: 200173596
8 SATB2 NM_015265.3(SATB2): c.1964C> T (p.Pro655Leu) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 200137172: 200137172
9 SATB2 NM_015265.3(SATB2): c.1592dup (p.Asn531Lysfs) duplication Pathogenic GRCh38 Chromosome 2, 199308908: 199308908

Expression for Glass Syndrome

Search GEO for disease gene expression data for Glass Syndrome.

Pathways for Glass Syndrome

GO Terms for Glass Syndrome

Sources for Glass Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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